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Autor:
Pippa Staps, Judith vanGaalen, Peter. vanDomburg, Peter M. Steijlen, Sacha Ferdinandusse, Tom denHeijer, Marieke M. B. Seyger, Thomas Theelen, Michèl A. A. P. Willemsen
Publikováno v:
JIMD Reports, Vol 53, Iss 1, Pp 61-70 (2020)
Abstract Sjögren‐Larsson syndrome (SLS) is a rare inborn error of lipid metabolism. The syndrome is caused by mutations in the ALDH3A2 gene, resulting in a deficiency of fatty aldehyde dehydrogenase. Most patients have a clearly recognizable sever
Externí odkaz:
https://doaj.org/article/531ae1bf8f2341ba8c7bca4f33ec208e